Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy

  • Diva Shah Assitant Professor, Department of Radiodiagnosis, Pramukhswami Medical College, Shrikrishna Hospital, Gokal Nagar, Karamsad, Anand, Gujrat
  • Apoorv Nirula Resident, Department of Radiodiagnosis, Pramukhswami Medical College, Shrikrishna Hospital, Gokal Nagar, Karamsad, Anand, Gujrat
  • Dwiti Shah Resident, Department of Radiodiagnosis, Pramukhswami Medical College, Shrikrishna Hospital, Gokal Nagar, Karamsad, Anand, Gujrat
Keywords: Maple syrup urine disease, MSUD oedema, Classic form, metabolic encephalopathy

Abstract

The newborn presenting with neurological symptoms such as seizures or lethargy due to inborn error of metabolism is an important problem. Maple syrup urine disease (MSUD) is an inherited genetic disease, caused by a deficiency of the catalytic components of α-ketoaciddehydrogenase complex, which is responsible for the catabolism of branched-chain amino acids. The purpose of this case report is to show diffusion-weighted imaging (DWI) MRI findings of acute phase of classic form of MSUD in a newborn although this imaging findings are rare but very typical, known as “MSUD oedema”.

DOI: http://dx.doi.org/10.3126/jnps.v33i3.8365  

J. Nepal Paediatr. Soc. 2013;33(3):230-233

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Abstract
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Published
2013-12-16
How to Cite
Shah, D., Nirula, A., & Shah, D. (2013). Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy. Journal of Nepal Paediatric Society, 33(3), 230-233. https://doi.org/10.3126/jnps.v33i3.8365
Section
Brief Reports/Case Reports/Case Series